Canonical Allele Identifier: CA16618341

Gene: AP4M1

Linked Data

• ClinVar Variation Id: 420267
• ClinVar RCV Id: RCV000481653 ; RCV001849380
• dbSNP Id: rs1064794383
• gnomAD v4: 7-100104079-CTCTCTT-C
• MyVariant Identifiers: chr7:g.99701707_99701712del (hg19) ; chr7:g.100104084_100104089del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100104084_100104089del , CM000669.2:g.100104084_100104089del	GRCh38
NC_000007.13:g.99701707_99701712del , CM000669.1:g.99701707_99701712del	GRCh37
NC_000007.12:g.99539643_99539648del	NCBI36
NG_016312.1:g.7578_7583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445295.2:c.544-8_544-3del	ENSP00000393723.2:n.544-8_544-3del
ENST00000495154.2:n.803-8_803-3del
ENST00000713591.1:c.544-8_544-3del	ENSP00000518888.1:n.544-8_544-3del
ENST00000359593.9:c.544-8_544-3del MANE Select	ENSP00000352603.4:n.544-8_544-3del
ENST00000359593.8:c.544-8_544-3del	ENSP00000352603.4:n.544-8_544-3del
ENST00000416938.5:c.500-8_500-3del
ENST00000421755.5:c.544-8_544-3del	ENSP00000412185.1:n.544-8_544-3del
ENST00000422582.5:c.160-8_160-3del	ENSP00000406676.1:n.160-8_160-3del
ENST00000429084.5:c.565-8_565-3del	ENSP00000403663.1:n.565-8_565-3del
ENST00000438383.5:c.340-8_340-3del	ENSP00000401613.1:n.340-8_340-3del
ENST00000439416.5:c.412-8_412-3del	ENSP00000414286.1:n.412-8_412-3del
ENST00000445208.5:c.*153-8_*153-3del	ENSP00000400598.1:n.*153-8_*153-3del
ENST00000446007.5:c.544-8_544-3del	ENSP00000396928.1:n.544-8_544-3del
ENST00000463195.5:n.618-8_618-3del
ENST00000479916.1:n.126-8_126-3del
NM_004722.3:c.544-8_544-3del	NP_004713.2:n.544-8_544-3del
XM_005250689.3:c.565-8_565-3del	XP_005250746.1:n.565-8_565-3del
XM_005250690.3:c.340-8_340-3del	XP_005250747.1:n.340-8_340-3del
XM_006716175.2:c.565-8_565-3del	XP_006716238.1:n.565-8_565-3del
XM_011516685.1:c.565-8_565-3del	XP_011514987.1:n.565-8_565-3del
XM_011516686.1:c.160-8_160-3del	XP_011514988.1:n.160-8_160-3del
XM_011516687.1:c.-65-8_-65-3del	XP_011514989.1:n.-65-8_-65-3del
NM_001363671.1:c.565-8_565-3del	NP_001350600.1:n.565-8_565-3del
XM_005250689.4:c.565-8_565-3del	XP_005250746.1:n.565-8_565-3del
XM_005250690.4:c.340-8_340-3del	XP_005250747.1:n.340-8_340-3del
XM_006716175.4:c.565-8_565-3del	XP_006716238.1:n.565-8_565-3del
XM_017012790.2:c.160-8_160-3del	XP_016868279.1:n.160-8_160-3del
XM_017012791.2:c.-65-8_-65-3del	XP_016868280.1:n.-65-8_-65-3del
XM_024446995.1:c.544-8_544-3del	XP_024302763.1:n.544-8_544-3del
XM_024446996.1:c.-65-8_-65-3del	XP_024302764.1:n.-65-8_-65-3del
NM_004722.4:c.544-8_544-3del MANE Select	NP_004713.2:n.544-8_544-3del
NM_001363671.2:c.565-8_565-3del	NP_001350600.1:n.565-8_565-3del